Canonical Allele Identifier: CA127007230

Gene: FBN2

Linked Data

• dbSNP Id: rs994325443
• gnomAD v3: 5-128333263-C-T
• gnomAD v4: 5-128333263-C-T
• MyVariant Identifiers: chr5:g.127668955C>T (hg19) ; chr5:g.128333263C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.128333263C>T , CM000667.2:g.128333263C>T	GRCh38
NC_000005.9:g.127668955C>T , CM000667.1:g.127668955C>T	GRCh37
NC_000005.8:g.127696854C>T	NCBI36
NG_008750.1:g.209781G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703783.1:n.884-229G>A
ENST00000703785.1:n.965-229G>A
ENST00000262464.9:c.4100-229G>A MANE Select	ENSP00000262464.4:n.4100-229G>A
ENST00000262464.8:c.4100-229G>A	ENSP00000262464.4:n.4100-229G>A
ENST00000507835.5:c.650-229G>A	ENSP00000426839.1:n.650-229G>A
ENST00000508053.5:c.4100-229G>A	ENSP00000424571.1:n.4100-229G>A
ENST00000508989.5:c.4001-229G>A	ENSP00000425596.1:n.4001-229G>A
ENST00000619499.4:c.4097-229G>A	ENSP00000482132.1:n.4097-229G>A
NM_001999.3:c.4100-229G>A	NP_001990.2:n.4100-229G>A
XM_017009228.2:c.3947-229G>A	XP_016864717.1:n.3947-229G>A
NM_001999.4:c.4100-229G>A MANE Select	NP_001990.2:n.4100-229G>A